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DNA Labs India

PHF8 Gene Mental retardation, X-linked, Siderius type NGS Genetic Test

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PHF8 Gene Mental retardation, X-linked, Siderius type NGS Genetic Test

Also known as: MRXSSD, Siderius type mental retardation, X-linked mental retardation 13

PHF8 Gene Mental retardation, X-linked, Siderius type NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next-Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks. Free home collection in 300+ cities across India.

NGS Genetic TestMaleAll Ages🏠 Home Collection

✍️ Written By

🩺 Medically Reviewed By

Dr SULOCHANA HEMCHANDRA HOLLA

Dr SULOCHANA HEMCHANDRA HOLLA

Consultant Medical Geneticist · Reg: 8532

Last reviewed: September 7, 2026

Overview

The purpose of the PHF8 Gene MRXSSD NGS Genetic Test is to detect mutations in the PHF8 gene to confirm the diagnosis of Mental Retardation, X-linked, Siderius type, facilitating early intervention and management.

Test Code
1711
Price
₹20,000
Sample Type
Blood or Extracted DNA or One drop Blood on FTA Card
Result Time
3 to 4 Weeks
Fasting Required
No
Method
Next-Generation Sequencing (NGS)
Step 1

Sample Collection

Genetic counseling session recommended to discuss test implications and family history.

Method: Venipuncture or FTA Card Collection

Step 2

Laboratory Analysis

Blood sample collected via venipuncture or one drop of blood on FTA card.

Step 3

Report Delivery

Sample is processed and sent to the laboratory for NGS analysis.

Timeline: 3 to 4 Weeks

Patient Instructions

1
Before the Test:Genetic counseling and detailed family history assessment are recommended before testing.
2
During the Test:Sample collection occurs at home or clinic, followed by laboratory processing.
3
After the Test:Analysis and report generation take 3 to 4 weeks, with results delivered via online portal or email.

About This Test

Who Should Get This Test

The purpose of the PHF8 Gene MRXSSD NGS Genetic Test is to detect mutations in the PHF8 gene to confirm the diagnosis of Mental Retardation, X-linked, Siderius type, facilitating early intervention and management.

How to Prepare

  • No fasting required
  • Ensure proper labeling of samples
  • Avoid hemolyzed or contaminated samples
  • Use sterile collection tubes or FTA cards

Doctor's Notes

Reviewed by — MBBS, MD (Medical Genetics) · Reg. No. 8532

"Early genetic diagnosis using NGS technology is essential for timely intervention and management of MRXSSD, potentially improving developmental outcomes."

Last medically reviewed: September 7, 2026

Test Parameters & Specifications

Sample TypeBlood or Extracted DNA or One drop Blood on FTA Card
Collection MethodVenipuncture or FTA Card Collection

Sample Stability

Blood: Stable at 2-8°C for up to 7 days
FTA Card: Room temperature stable for several weeks
Sample Rejection Criteria:
  • Improperly labeled or unlabeled samples
  • Insufficient sample volume
  • Contaminated or hemolyzed samples

Understanding Your Results

Results from the PHF8 Gene MRXSSD NGS Genetic Test should be interpreted by a qualified geneticist or healthcare provider in the context of clinical symptoms and family history.
Normal: No pathogenic variants in PHF8 gene, reducing likelihood of MRXSSD
Abnormal: Pathogenic variant detected, confirming MRXSSD diagnosis
Variant of Uncertain Significance (VUS): Requires further evaluation and genetic counseling
⚠️ When to Consult a Doctor:

If symptoms such as intellectual disability, delayed development, or family history of MRXSSD are present, consult a geneticist or neurologist for evaluation and possible genetic testing.

Limitations

  • ⚠May not detect all types of mutations such as large deletions or insertions
  • ⚠Requires genetic counseling for accurate interpretation
  • ⚠Results may have variants of uncertain significance

Risks & Considerations

  • ●Minimal risk associated with blood draw, such as bruising or infection
  • ●Psychological impact of genetic test results on individuals and families

Frequently Asked Questions

What is PHF8 Gene MRXSSD NGS Genetic Test?
It is a genetic test that uses Next-Generation Sequencing to identify mutations in the PHF8 gene associated with Mental Retardation, X-linked, Siderius type (MRXSSD).
What are the symptoms of MRXSSD?
Symptoms include intellectual disability, delayed speech and language development, behavioral problems like hyperactivity and aggression, facial abnormalities such as a small head and flat face, and delayed motor skills.
How is MRXSSD diagnosed?
Diagnosis is through genetic testing, specifically NGS to detect mutations in the PHF8 gene, along with clinical evaluation and family history.
What is the cost of the PHF8 Gene MRXSSD NGS Genetic Test in India?
The cost is approximately INR 20,000 at DNA Labs India, which may include sample collection and analysis.
Is home sample collection available for this test?
Yes, DNA Labs India offers free home sample collection for this test across many cities in India.
How long does it take to get the test results?
Results are typically available in 3 to 4 weeks after sample collection.
What sample type is required for the test?
The test requires blood, extracted DNA, or one drop of blood on an FTA card.
Is fasting required for the PHF8 Gene test?
No, fasting is not required for this genetic test.
Who should consider taking this test?
Individuals with symptoms of intellectual disability, delayed development, or a family history of MRXSSD or X-linked mental retardation should consider testing.
What does a positive test result mean?
A positive result indicates a pathogenic mutation in the PHF8 gene, confirming a diagnosis of MRXSSD and guiding management and counseling.
Are there any risks associated with genetic testing?
Risks are minimal, mainly related to blood draw, but may include psychological impacts from results; genetic counseling is recommended.
How can I interpret the test results?
Results should be interpreted by a qualified geneticist or healthcare provider, considering clinical symptoms and family history. Genetic counseling is advised.
Worried about the process? Our certified phlebotomists collect thousands of samples every month across India. The process takes under 5 minutes and is virtually painless. Questions? Message us on WhatsApp — we're here 7 days a week.

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For Hospitals & Clinics

Reference Laboratory Services

We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.

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✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.

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